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YaqingLiu il y a 3 ans
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      .DS_Store
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      LICENSE.md
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      README.md
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      defaults
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      inputs
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      tasks/annovar.wdl
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      workflow.wdl

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.DS_Store Voir le fichier


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LICENSE.md Voir le fichier


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README.md Voir le fichier

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### ANNOVAR
This APP developed for the annotation of VCF files.

**Please take care to check that the parameter `hg` is compatible with your reference genome reference builds version.**

If the type and version of database currently used in the APP does not meet your needs, please contact the developer.
### Getting Started

We recommend using choppy system and Aliyun OSS service. The command will look like this:

```
# Activate the choppy environment
$ open-choppy-env

# Install the APP
$ choppy install YaqingLiu/annovar [-f]

# List the parameters
$ choppy samples YaqingLiu/annovar-latest [--no-default]

# Submit you task with the `samples.csv file` and `project name`
$ choppy batch YaqingLiu/annovar-latest samples.csv -p Project [-l project:Label]

# Query the status of all tasks in the project
$ choppy query -L project:Label | grep "status"
```

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defaults Voir le fichier

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{
"annovar_docker": "registry.cn-shanghai.aliyuncs.com/pgx-docker-registry/annovar:v2019.10",
"annovar_database": "oss://pgx-reference-data/annovar/",
"hg": "hg38",
"disk_size": "200",
"cluster_config": "OnDemand bcs.a2.3xlarge img-ubuntu-vpc"
}

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inputs Voir le fichier

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{
"{{ project_name }}.vcf": "{{ vcf }}",
"{{ project_name }}.annovar_docker": "{{ annovar_docker }}",
"{{ project_name }}.hg": "{{ hg }}",
"{{ project_name }}.annovar_database": "{{ annovar_database }}",
"{{ project_name }}.disk_size": "{{ disk_size }}",
"{{ project_name }}.cluster_config": "{{ cluster_config }}"
}

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tasks/annovar.wdl Voir le fichier

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task annovar {

File vcf
String basename = basename(vcf,".vcf")
String hg
File annovar_database
String docker
String cluster_config
String disk_size


command <<<
set -o pipefail
set -e
nt=$(nproc)

if [ ${hg} == "hg38" ]; then
/installations/annovar/table_annovar.pl ${vcf}\
${annovar_database} -buildver ${hg} \
-out ${basename} -remove \
-protocol rmsk \
-operation r \
-nastring . -vcfinput -thread $nt
fi

if [ ${hg} == "hg19" ]; then
/installations/annovar/table_annovar.pl ${vcf}\
${annovar_database} -buildver ${hg} \
-out ${basename} -remove \
-protocol refGene,cytoBand,genomicSuperDups,ljb26_all,snp138,cosmic78,intervar_20170202,popfreq_all_20150413,clinvar_20190305 \
-operation g,r,r,f,f,f,f,f,f \
-nastring . -vcfinput -thread $nt
fi
>>>
runtime {
docker: docker
cluster: cluster_config
systemDisk: "cloud_ssd 40"
dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/"
}

output {
File avinput = "${basename}.avinput"
File rmsk_txt = "${basename}.${hg}_rmsk.txt"
File rmsk_vcf = "${basename}.${hg}_rmsk.vcf"
}
}

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workflow.wdl Voir le fichier

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import "./tasks/annovar.wdl" as annovar

workflow {{ project_name }} {
File vcf
String hg
File annovar_database
String annovar_docker
String disk_size
String cluster_config

call annovar.annovar as annovar {
input:
vcf=vcf,
hg=hg,
annovar_database=annovar_database,
docker=annovar_docker,
cluster_config=cluster_config,
disk_size=disk_size
}
}

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